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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

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Publication Date
Sun Nov 17 2024
Journal Name
Microbes And Infectious Diseases
Molecular detection and the frequency of a pore-forming toxin in Enterococcus faecalis isolated from urinary tract infections
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Background: Enterococcus faecalis is a causative agent for urinary tract infections (UTIs) in Iraq and worldwide, even though it is a commensal bacterium in human and animal intestines. It can cause different illnesses due to its ability to produce various virulence factors. A pore-forming toxin (cytolysin) is the most virulence factor in this bacterium. Objective: This study aims to molecularly investigate the frequency of cytolysin toxin among E. faecalis isolated from UTIs. Methods: A hundred and eighty urine specimens were collected from females diagnosed with UTIs. Traditional laboratory and molecular methods were used for bacterial identification and toxin detection using a modified DNA extraction method. Results: The findings reveal

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Publication Date
Mon Feb 20 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Molecular Study to Detect Genotyping of Giardia lamblia from Human and Cattle Feces in Al-Qadisiya Governorate, Iraq
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The present study is designed to diagnose the giardiasis from cattle and patients with diarrhea arrivals to Maternity and Childhood Teaching Hospital and General Education Hospital in Al-Qadisiya Governorate by using direct wet smear method as well as knowledge of the rate of prevalence of giardiasis in Al- Diwaniyah province, and study the effect of age, sex and nature of residence in the proportions of infection and investigate the genotypes of Giardia lamblia from human and animal feces ,100 samples were collected (50 stool samples of human and 50 feces samples of cattle). In human, the result showed that the infection rate was 54% (27). The age group of 2-4 years showed the highest rate of infection (40.7%), while children aged 8-10

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Publication Date
Sun Dec 25 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Synthesis, Molecular Docking Study and Cytotoxicity Evaluation of some Quinazolinone Derivatives as Nonclassical Antifolates and Potential Cytotoxic Agents
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Abstract

A series of new 4(3H)-quinazolinone derivatives (S1-S4) were synthesized and characterized   by FTIR,1HNMR and 13CNMR .Their cytotoxic activity against a set of human cancer cell lines MCF-7 (breast) and A549 (lung) was evaluated using MTT assay. To detect their selectivity toward cancer cells, the compounds were also tested against epithelial cells derived from normal human fibroblast (NHF). Methotrexate (MTX) was used as a reference for comparison . All the tested compounds exhibited toxicity against the normal cells lower than cancer cells. All the tested compounds displayed higher cytotoxicity against lung cancer cell line (A549) than MTX with the most

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Publication Date
Wed Apr 02 2025
Journal Name
Journal Of Baghdad College Of Dentistry
The Salivary Inflammatory Biomarkers (Interleukin-6, C - reactive protein) in Relation with Caries-Experience among a Group of 12 Year Old Obese Boys
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Background: Obesity and dental caries are multifactorial diseases related to poor eating habits and show a close relationship with the sociodemographic characteristics of individuals presenting these diseases. This research aimed to investigate the severity of dental caries among group of obese boys aged 12 year in relation to salivary interleukin-6 (IL-6) and C-reactive protein (CRP) of unstimulated whole saliva in comparison with normal weighted boys of the same age. Materials and Methods: The study group included 40 obese boys, with an age of 12 year. The control group included 40 normal weighted boys of the same age. The total sample involved for nutritional status assessment using Body Mass Index specific for age and gender according t

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Publication Date
Sun Jun 27 2021
Journal Name
Iraqi National Journal Of Nursing Specialties
Level of Depression and Anxiety among School Age Children with Acute Lymphoblastic Leukemia under Chemotherapy Treatment at Pediatric Teaching Hospitals in Baghdad City
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Objective(s): To assess the level of depression and anxiety among school age children with acute lymphoblastic leukemia under chemotherapy treatment and to find out the relationship between the level of depression and anxiety among the affected children and their demographic characteristics.
Methodology: A cross-sectional study was conducted on school age children both gender having acute lymphoblastic leukemia under chemotherapy treated and their age between 6 years to 12 years. The study started from the period of September, 19th 2020 to March,1st 2021. Non-probability (Purposive) sample of (114) children with acute lymphoblastic leukemia under chemotherapy was selected in attending hospital wards, outpatient and counseling clinics

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Publication Date
Tue Jan 01 2019
Journal Name
Biochemical & Cellular Archives
Assessment of uric acid in patients of end-stage renal disease with hypertension and diabetic nephropathy and the risk of cardiovascular diseases
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The relationship of hyperuricemia to kidney disease, diabetes, hypertension and the risk of cardiovascular diseases remain controversial. The aim of this study is to evaluate the use of uric acid (UA) levels to find the higher risk of cardiovascular disease (CVD) in patients with end stage renal disease that have diabetic nephropathy (DN), nephropathy with hypertension (NH) and patients with both diabetic nephropathy with hypertension (DNH). This study deals with 115 patients with end-stage renal disease under hemodialysis sub-grouped into 35 patients with (DN), 40 patients with (NH), and 40 patients with (DNH). Some biochemical parameters were determined in the serum of all participants such as HbA1c, fasting blood glucose (FBG), UA, urea,

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Publication Date
Wed Apr 02 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Assessment of serum and salivary oxidant and total antioxidant status of patients with recurrent aphthous stomatitis in a sample of Basrah city
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Background: Recurrent Aphthous Stomatitis (RAS) is the most common painful oral mucosal disease, affecting approximately 20% of the population. RAS presents with a wide spectrum of severity ranging from a minor nuisance to complete debility. Many of factors thought to have been involved in its etiology; that might have at the same time a direct or indirect impact upon oxidant/antioxidant system and trigger free radicals production. The aim of this study was to determine the possible association of oxidant/total antioxidant status and recurrent aphthous stomatitis (RAS). Subjects, materials and methods: The study consisted of thirty patients with recurrent aphthous stomatitis and thirty healthy controls from which saliva and blood samples we

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Publication Date
Mon Dec 20 2021
Journal Name
Baghdad Science Journal
Serum prolactin, Preptin, CCL 18 and genetic polymorphisms in Iraqi women with polycystic ovary syndrome
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The polycystic ovary syndrome is an endocrine condition. One of the leading causes of female infertility and the most common disorder among women. The work was being carried out on 100 Iraqi women (50 cases confirmed with PCOS and 50 controls). Between October 2019 and March 2020, blood samples were collected from the Advanced Institute of Infertility Diagnosis and Assisted Reproductive Technology at AL-Nahrain University and a private laboratory. ELISA was used to evaluate the biochemical parameters of preptin, FSH, insulin, LH, and CCL 18 in serum samples from the AFIAS-6 (AFIAS Automated Immunoassay System). The findings of the analysis indicate that, as opposed to the control group, values of prolactin (ng/ml), LH (mIU/ml), Preptin (

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Publication Date
Mon Dec 31 2018
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Dyslipidemia and CA15-3 serum level in Iraqi Women with Breast Tumor: A Comparative Study
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Publication Date
Thu May 11 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Statistical Analysis of Duration of Hospitalization
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      This research is mostly concerned of exploration analysis of a random sample of data from Al-sadder hospital.  We examine duration of hospital stay (DHS) and investigate any significant difference in duration between sex, age groups, occupation, patients’ condition at admission, and patients’ condition at discharge

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